Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV000777549 | SCV000913412 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-04-15 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 3 of the MUTYH gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MUTYH function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
| Invitae | RCV001385505 | SCV001585383 | pathogenic | Familial adenomatous polyposis 2 | 2020-11-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). This variant has been observed in individual(s) with polyposis and colorectal cancer (PMID: 12606733). This variant is also known as 252delG in the literature. ClinVar contains an entry for this variant (Variation ID: 631361). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser99Alafs*3) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. |